ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)

gnomAD frequency: 0.00001  dbSNP: rs779331797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409533 SCV000486785 likely pathogenic GRACILE syndrome 2016-08-14 criteria provided, single submitter clinical testing
Invitae RCV001050600 SCV001214715 pathogenic not provided 2021-08-26 criteria provided, single submitter clinical testing

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